Links from Gene
Items: 1 to 20 of 9928
1.
rs1491573793 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 7:64250266
(GRCh38)
7:63710645
(GRCh37)
- Canonical SPDI:
- NC_000007.14:64250266::G
- Gene:
- ZNF679 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000128/1
(GnomAD)
- HGVS:
2.
rs1491561720 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 7:64236453
(GRCh38)
7:63696831
(GRCh37)
- Canonical SPDI:
- NC_000007.14:64236452:GA:
- Gene:
- ZNF679 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000011/3
(TOPMED)
- HGVS:
3.
rs1491554673 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 7:64265044
(GRCh38)
7:63725422
(GRCh37)
- Canonical SPDI:
- NC_000007.14:64265042:TAT:T
- Gene:
- ZNF679 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.000036/5
(GnomAD)
-=0.000045/12
(TOPMED)
- HGVS:
4.
rs1491499754 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GG
[Show Flanks]
- Chromosome:
- 7:64245422
(GRCh38)
7:63705801
(GRCh37)
- Canonical SPDI:
- NC_000007.14:64245422:G:GGG
- Gene:
- ZNF679 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGG=0./0
(
ALFA)
GG=0.0002/3
(GnomAD)
GG=0.00046/4
(TOMMO)
- HGVS:
5.
rs1491493724 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 7:64235798
(GRCh38)
7:63696176
(GRCh37)
- Canonical SPDI:
- NC_000007.14:64235796:AGA:A
- Gene:
- ZNF679 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
6.
rs1491449195 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GG>-
[Show Flanks]
- Chromosome:
- 7:64245444
(GRCh38)
7:63705822
(GRCh37)
- Canonical SPDI:
- NC_000007.14:64245442:GGG:G
- Gene:
- ZNF679 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
-=0.00004/1
(TOMMO)
- HGVS:
7.
rs1491447705 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G,GAGG
[Show Flanks]
- Chromosome:
- 7:64245420
(GRCh38)
7:63705799
(GRCh37)
- Canonical SPDI:
- NC_000007.14:64245420::G,NC_000007.14:64245420::GAGG
- Gene:
- ZNF679 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAGG=0./0
(
ALFA)
G=0.00673/4
(NorthernSweden)
G=0.00778/338
(GnomAD)
G=0.06866/124
(Korea1K)
G=0.07102/1184
(TOMMO)
- HGVS:
8.
rs1491424160 has merged into rs11434714 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 7:64250279
(GRCh38)
7:63710657
(GRCh37)
- Canonical SPDI:
- NC_000007.14:64250265:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:64250265:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:64250265:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:64250265:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:64250265:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:64250265:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:64250265:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:64250265:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:64250265:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:64250265:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:64250265:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:64250265:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:64250265:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:64250265:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:64250265:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:64250265:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:64250265:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:64250265:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:64250265:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:64250265:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:64250265:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:64250265:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:64250265:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:64250265:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:64250265:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:64250265:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:64250265:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:64250265:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:64250265:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:64250265:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:64250265:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:64250265:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:64250265:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ZNF679 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.0042/16
(ALSPAC)
-=0.0043/16
(TWINSUK)
- HGVS:
NC_000007.14:g.64250279_64250287del, NC_000007.14:g.64250280_64250287del, NC_000007.14:g.64250281_64250287del, NC_000007.14:g.64250282_64250287del, NC_000007.14:g.64250283_64250287del, NC_000007.14:g.64250284_64250287del, NC_000007.14:g.64250285_64250287del, NC_000007.14:g.64250286_64250287del, NC_000007.14:g.64250287del, NC_000007.14:g.64250287dup, NC_000007.14:g.64250286_64250287dup, NC_000007.14:g.64250285_64250287dup, NC_000007.14:g.64250284_64250287dup, NC_000007.14:g.64250283_64250287dup, NC_000007.14:g.64250282_64250287dup, NC_000007.14:g.64250281_64250287dup, NC_000007.14:g.64250280_64250287dup, NC_000007.14:g.64250279_64250287dup, NC_000007.14:g.64250278_64250287dup, NC_000007.14:g.64250277_64250287dup, NC_000007.14:g.64250274_64250287dup, NC_000007.14:g.64250273_64250287dup, NC_000007.14:g.64250287_64250288insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.64250287_64250288insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.64250287_64250288insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.64250287_64250288insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.64250287_64250288insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.64250287_64250288insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.64250287_64250288insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.64250287_64250288insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.64250287_64250288insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.64250287_64250288insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.64250287_64250288insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.63710657_63710665del, NC_000007.13:g.63710658_63710665del, NC_000007.13:g.63710659_63710665del, NC_000007.13:g.63710660_63710665del, NC_000007.13:g.63710661_63710665del, NC_000007.13:g.63710662_63710665del, NC_000007.13:g.63710663_63710665del, NC_000007.13:g.63710664_63710665del, NC_000007.13:g.63710665del, NC_000007.13:g.63710665dup, NC_000007.13:g.63710664_63710665dup, NC_000007.13:g.63710663_63710665dup, NC_000007.13:g.63710662_63710665dup, NC_000007.13:g.63710661_63710665dup, NC_000007.13:g.63710660_63710665dup, NC_000007.13:g.63710659_63710665dup, NC_000007.13:g.63710658_63710665dup, NC_000007.13:g.63710657_63710665dup, NC_000007.13:g.63710656_63710665dup, NC_000007.13:g.63710655_63710665dup, NC_000007.13:g.63710652_63710665dup, NC_000007.13:g.63710651_63710665dup, NC_000007.13:g.63710665_63710666insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.63710665_63710666insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.63710665_63710666insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.63710665_63710666insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.63710665_63710666insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.63710665_63710666insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.63710665_63710666insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.63710665_63710666insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.63710665_63710666insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.63710665_63710666insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.63710665_63710666insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
9.
rs1491370312 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GAA
[Show Flanks]
- Chromosome:
- 7:64236942
(GRCh38)
7:63697321
(GRCh37)
- Canonical SPDI:
- NC_000007.14:64236942:AAGAA:AAGAAGAA
- Gene:
- ZNF679 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAGAAGAA=0.00008/1
(
ALFA)
- HGVS:
10.
rs1491361504 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 7:64245443
(GRCh38)
7:63705822
(GRCh37)
- Canonical SPDI:
- NC_000007.14:64245443::A
- Gene:
- ZNF679 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.002016/9
(
ALFA)
A=0.000212/4
(TOMMO)
A=0.001641/3
(Korea1K)
A=0.009525/61
(1000Genomes)
A=0.009533/1323
(GnomAD)
A=0.016667/10
(NorthernSweden)
- HGVS:
12.
rs1491238300 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 7:64242768
(GRCh38)
7:63703146
(GRCh37)
- Canonical SPDI:
- NC_000007.14:64242767:AT:
- Gene:
- ZNF679 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00012/2
(GnomAD)
- HGVS:
14.
rs1491188505 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 7:64236974
(GRCh38)
7:63697353
(GRCh37)
- Canonical SPDI:
- NC_000007.14:64236974::G
- Gene:
- ZNF679 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.0052/34
(GnomAD)
- HGVS:
15.
rs1491172833 has merged into rs60021774 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GAAAGAA
[Show Flanks]
- Chromosome:
- 7:64236911
(GRCh38)
7:63697290
(GRCh37)
- Canonical SPDI:
- NC_000007.14:64236911:AAGAAAGAA:AAGAAAGAAGAAAGAA
- Gene:
- ZNF679 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AAGAAAGAAGAAAGAA=0./0
(
ALFA)
- HGVS:
16.
rs1491122329 has merged into rs372896063 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGAGAGAGAGAGAG>-,AGAGAG,AGAGAGAG,AGAGAGAGAG,AGAGAGAGAGAG,AGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAG
[Show Flanks]
- Chromosome:
- 7:64245430
(GRCh38)
7:63705808
(GRCh37)
- Canonical SPDI:
- NC_000007.14:64245421:AGAGAGAGAGAGAGAGAGAGAG:AGAGAGAG,NC_000007.14:64245421:AGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAG,NC_000007.14:64245421:AGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAG,NC_000007.14:64245421:AGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAG,NC_000007.14:64245421:AGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAG,NC_000007.14:64245421:AGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAG,NC_000007.14:64245421:AGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000007.14:64245421:AGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000007.14:64245421:AGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000007.14:64245421:AGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000007.14:64245421:AGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000007.14:64245421:AGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG
- Gene:
- ZNF679 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000007.14:g.64245422AG[4], NC_000007.14:g.64245422AG[7], NC_000007.14:g.64245422AG[8], NC_000007.14:g.64245422AG[9], NC_000007.14:g.64245422AG[10], NC_000007.14:g.64245422AG[12], NC_000007.14:g.64245422AG[13], NC_000007.14:g.64245422AG[14], NC_000007.14:g.64245422AG[15], NC_000007.14:g.64245422AG[16], NC_000007.14:g.64245422AG[17], NC_000007.14:g.64245422AG[18], NC_000007.13:g.63705800AG[4], NC_000007.13:g.63705800AG[7], NC_000007.13:g.63705800AG[8], NC_000007.13:g.63705800AG[9], NC_000007.13:g.63705800AG[10], NC_000007.13:g.63705800AG[12], NC_000007.13:g.63705800AG[13], NC_000007.13:g.63705800AG[14], NC_000007.13:g.63705800AG[15], NC_000007.13:g.63705800AG[16], NC_000007.13:g.63705800AG[17], NC_000007.13:g.63705800AG[18]
17.
rs1491104198 has merged into rs754210901 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA
[Show Flanks]
- Chromosome:
- 7:64236943
(GRCh38)
7:63697321
(GRCh37)
- Canonical SPDI:
- NC_000007.14:64236941:AAA:A,NC_000007.14:64236941:AAA:AA,NC_000007.14:64236941:AAA:AAAA,NC_000007.14:64236941:AAA:AAAAA
- Gene:
- ZNF679 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0./0
(ALSPAC)
A=0.00027/1
(TWINSUK)
-=0.00068/4
(TOMMO)
-=0.0013/1
(Korea1K)
- HGVS:
18.
rs1491102240 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AAATAA
[Show Flanks]
- Chromosome:
- 7:64265043
(GRCh38)
7:63725422
(GRCh37)
- Canonical SPDI:
- NC_000007.14:64265043:A:AAAATAA
- Gene:
- ZNF679 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
AAAATA=0.000007/1
(GnomAD)
- HGVS:
19.
rs1491032472 has merged into rs55654659 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT,TTTTTTTTTT,TTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 7:64242780
(GRCh38)
7:63703158
(GRCh37)
- Canonical SPDI:
- NC_000007.14:64242768:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:64242768:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:64242768:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:64242768:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:64242768:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:64242768:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ZNF679 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0.0038/17
(
ALFA)
T=0.2562/537
(1000Genomes)
- HGVS:
NC_000007.14:g.64242780_64242781del, NC_000007.14:g.64242781del, NC_000007.14:g.64242781dup, NC_000007.14:g.64242780_64242781dup, NC_000007.14:g.64242774_64242781dup, NC_000007.14:g.64242769_64242781dup, NC_000007.13:g.63703158_63703159del, NC_000007.13:g.63703159del, NC_000007.13:g.63703159dup, NC_000007.13:g.63703158_63703159dup, NC_000007.13:g.63703152_63703159dup, NC_000007.13:g.63703147_63703159dup
20.
rs1490971046 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 7:64258838
(GRCh38)
7:63719216
(GRCh37)
- Canonical SPDI:
- NC_000007.14:64258837:G:C
- Gene:
- ZNF679 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS: